UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
phosphatidylinositol phospholipase C activity | ||
GTPase activator activity | ||
calmodulin binding | ||
identical protein binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000505 | Visual impairment |
HP:0000707 | Abnormality of the nervous system |
HP:0000826 | Precocious puberty |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001276 | Hypertonia |
HP:0001336 | Myoclonus |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102529315 | VICPA00297 | ||
112158335 | ORYME16695 | ||
101065367 | TAKRU14042 | ||
102020797 | CHILA04920 | ||
105719088 | AOTNA04880 | ||
101047168 | SAIBB21825 | ||
111240392 | SERDU01521 | ||
108423552 | PYGNA04390 | ||
101954421 | ICTTR08186 | ||
103148043 | POEFO17138 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024